P39001 · UME6_YEAST
- ProteinTranscriptional regulatory protein UME6
- GeneUME6
- StatusUniProtKB reviewed (Swiss-Prot)
- Amino acids836 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
s04-867363 | 53 | H>D | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: IV:g.867366G>C Codon: CAT/GAT Consequence type: missense Cytogenetic band: Genomic location: IV:g.867366G>C Locations: - p.His53Asp (Ensembl:YDR207C_mRNA) - c.157C>G (Ensembl:YDR207C_mRNA) Source type: large scale study Cross-references: - SGRP: s04-867363 | |||||||
s04-867306 | 72 | A>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: IV:g.867309C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: Genomic location: IV:g.867309C>T Locations: - p.Ala72Thr (Ensembl:YDR207C_mRNA) - c.214G>A (Ensembl:YDR207C_mRNA) Source type: large scale study Cross-references: - SGRP: s04-867306 | |||||||
s04-867071 | 150 | S>N | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: IV:g.867074C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: Genomic location: IV:g.867074C>T Locations: - p.Ser150Asn (Ensembl:YDR207C_mRNA) - c.449G>A (Ensembl:YDR207C_mRNA) Source type: large scale study Cross-references: - SGRP: s04-867071 | |||||||
s04-866982 | 180 | A>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: IV:g.866985C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: Genomic location: IV:g.866985C>T Locations: - p.Ala180Thr (Ensembl:YDR207C_mRNA) - c.538G>A (Ensembl:YDR207C_mRNA) Source type: large scale study Cross-references: - SGRP: s04-866982 | |||||||
s04-866946 | 192 | V>I | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: IV:g.866949C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: Genomic location: IV:g.866949C>T Locations: - p.Val192Ile (Ensembl:YDR207C_mRNA) - c.574G>A (Ensembl:YDR207C_mRNA) Source type: large scale study Cross-references: - SGRP: s04-866946 | |||||||
s04-866855 | 222 | P>L | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: IV:g.866858G>A Codon: CCA/CTA Consequence type: missense Cytogenetic band: Genomic location: IV:g.866858G>A Locations: - p.Pro222Leu (Ensembl:YDR207C_mRNA) - c.665C>T (Ensembl:YDR207C_mRNA) Source type: large scale study Cross-references: - SGRP: s04-866855 | |||||||
s04-866841 | 227 | V>I | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: IV:g.866844C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: Genomic location: IV:g.866844C>T Locations: - p.Val227Ile (Ensembl:YDR207C_mRNA) - c.679G>A (Ensembl:YDR207C_mRNA) Source type: large scale study Cross-references: - SGRP: s04-866841 | |||||||
s04-866756 | 255 | L>P | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: IV:g.866759A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: Genomic location: IV:g.866759A>G Locations: - p.Leu255Pro (Ensembl:YDR207C_mRNA) - c.764T>C (Ensembl:YDR207C_mRNA) Source type: large scale study Cross-references: - SGRP: s04-866756 | |||||||
s04-866739 | 261 | N>H | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: IV:g.866742T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: Genomic location: IV:g.866742T>G Locations: - p.Asn261His (Ensembl:YDR207C_mRNA) - c.781A>C (Ensembl:YDR207C_mRNA) Source type: large scale study Cross-references: - SGRP: s04-866739 | |||||||
s04-866720 | 267 | T>N | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: IV:g.866723G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: Genomic location: IV:g.866723G>T Locations: - p.Thr267Asn (Ensembl:YDR207C_mRNA) - c.800C>A (Ensembl:YDR207C_mRNA) Source type: large scale study Cross-references: - SGRP: s04-866720 | |||||||
s04-866582 | 313 | R>H | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: IV:g.866585C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: Genomic location: IV:g.866585C>T Locations: - p.Arg313His (Ensembl:YDR207C_mRNA) - c.938G>A (Ensembl:YDR207C_mRNA) Source type: large scale study Cross-references: - SGRP: s04-866582 | |||||||
s04-866555 | 322 | Q>P | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: IV:g.866558T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: Genomic location: IV:g.866558T>G Locations: - p.Gln322Pro (Ensembl:YDR207C_mRNA) - c.965A>C (Ensembl:YDR207C_mRNA) Source type: large scale study Cross-references: - SGRP: s04-866555 | |||||||
s04-866433 | 363 | I>V | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: IV:g.866436T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: Genomic location: IV:g.866436T>C Locations: - p.Ile363Val (Ensembl:YDR207C_mRNA) - c.1087A>G (Ensembl:YDR207C_mRNA) Source type: large scale study Cross-references: - SGRP: s04-866433 | |||||||
s04-866192 | 443 | N>T | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: IV:g.866195T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: Genomic location: IV:g.866195T>G Locations: - p.Asn443Thr (Ensembl:YDR207C_mRNA) - c.1328A>C (Ensembl:YDR207C_mRNA) Source type: large scale study Cross-references: - SGRP: s04-866192 | |||||||
s04-866126 | 465 | G>D | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: IV:g.866129C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: Genomic location: IV:g.866129C>T Locations: - p.Gly465Asp (Ensembl:YDR207C_mRNA) - c.1394G>A (Ensembl:YDR207C_mRNA) Source type: large scale study Cross-references: - SGRP: s04-866126 | |||||||
s04-865554 | 656 | P>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: IV:g.865557G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: Genomic location: IV:g.865557G>A Locations: - p.Pro656Ser (Ensembl:YDR207C_mRNA) - c.1966C>T (Ensembl:YDR207C_mRNA) Source type: large scale study Cross-references: - SGRP: s04-865554 | |||||||
s04-865499 | 674 | T>N | SGRP | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: IV:g.865502G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: Genomic location: IV:g.865502G>T Locations: - p.Thr674Asn (Ensembl:YDR207C_mRNA) - c.2021C>A (Ensembl:YDR207C_mRNA) Source type: large scale study Cross-references: - SGRP: s04-865499 | |||||||
s04-865394 | 709 | N>S | SGRP | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: IV:g.865397T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: Genomic location: IV:g.865397T>C Locations: - p.Asn709Ser (Ensembl:YDR207C_mRNA) - c.2126A>G (Ensembl:YDR207C_mRNA) Source type: large scale study Cross-references: - SGRP: s04-865394 |